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CHARGE SYNDROME-WHAT DOES IT MEAN??
A Closer Look at Coloboma (C)
By
Amanda Bowdoin
What is Charge Syndrome?
CHARGE syndrome is a recognizable (genetic)
pattern of birth defects which occurs in about
one in every 9-10,000 births worldwide. It is an
extremely complex syndrome, involving
extensive medical and physical difficulties that
differ from child to child.
The vast majority of the time, there is no
history of CHARGE syndrome or any other
similar conditions in the family. Babies with
CHARGE syndrome are often born with lifethreatening birth defects, including complex
heart defects and breathing problems.
microphthalmos (small eyes) or anophthalmos
(missing eye): This will also cause vision Loss.
This occurs about 80 to 90% of CHARGE
Children.
The above picture is of the coloboma of the iris.
Most have hearing loss, vision loss, and balance
problems which delay their development and
communication. All are likely to require medical
and educational intervention for many years.
The letters in CHARGE stand for:
Coloboma of the eye,
The picture above is a normal human retina.
Heart defects,
Atresia of the choanae,
Retardation of growth and/or development,
Genital and/or urinary abnormalities, and
Ear abnormalities and deafness.
Major Features of CHARGE Syndrome (C)
C-Coloboma of the eye- Coloboma of the iris,
retina, choroid, macula or disc (not the eyelid);
The picture above is a retinal coloboma.
TREATMENT:
There is no cure for coloboma. This condition
should be monitored according to the
complexity of the eye involvement. There is a
small increased risk of detached retina or
glaucoma. Children with colobomas frequently
develop a need for glasses or contact lenses.
Early detection and treatment can prevent
further vision loss due to the child ignoring the
eye that needs stronger glasses.
References
Cassin,Barbara and Melvin L. Rubin, MD, Editor.
Dictionary of Eye Terminology. 5th Edition. 2006
Page 69.
Goldberg,M.D., Stephen and William Trattler,
M.D. ; Ophthalmology Made Ridiculously
Simple. 4th Edition. 2008 . Page 78.
McKinney, Bill, PhD. Exective director. Program
in Low Vision Terapy. Region 4 ESC. 2004. Page
9.
www.chargesyndrome.org. 141 Middle Neck Rd
· Sands Point, NY 11050 · 800-442-7604.
Copyright 1993-2008 CHARGE Syndrome
Foundation.
McMain,Karen , Johane Robitaille, Isabel Smith,
Judy Johnson, Ellen Wood, Francois Tremblay,
Kim Blake. Ocular features of CHARGE
syndrome, 06 May 2008. Journal of AAPOS.
DOI:10.1016/j.jaapos.2008.02.009